Studying mutation rate evolution in primates - a need for systematic comparison of computational pipelines
Publikation: Bidrag til tidsskrift › Review › Forskning › fagfællebedømt
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Studying mutation rate evolution in primates - a need for systematic comparison of computational pipelines. / Bergeron, Lucie A.; Besenbacher, Søren; Schierup, Mikkel H.; Zhang, Guojie.
I: GigaScience, Bind 10, Nr. 10, giab072, 2021.Publikation: Bidrag til tidsskrift › Review › Forskning › fagfællebedømt
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TY - JOUR
T1 - Studying mutation rate evolution in primates - a need for systematic comparison of computational pipelines
AU - Bergeron, Lucie A.
AU - Besenbacher, Søren
AU - Schierup, Mikkel H.
AU - Zhang, Guojie
N1 - Publisher Copyright: © 2021 The Author(s) 2021. Published by Oxford University Press GigaScience.
PY - 2021
Y1 - 2021
N2 - The lack of consensus methods to estimate germline mutation rates from pedigrees has led to substantial differences in computational pipelines in the published literature. Here, we answer Susanne Pfeifer's opinion piece discussing the pipeline choices of our recent article estimating the germline mutation rate of rhesus macaques (Macaca mulatta). We acknowledge the differences between the method that we applied and the one preferred by Pfeifer. Yet, we advocate for full transparency and justification of choices as long as rigorous comparison of pipelines remains absent because it is the only way to conclude on best practices for the field.
AB - The lack of consensus methods to estimate germline mutation rates from pedigrees has led to substantial differences in computational pipelines in the published literature. Here, we answer Susanne Pfeifer's opinion piece discussing the pipeline choices of our recent article estimating the germline mutation rate of rhesus macaques (Macaca mulatta). We acknowledge the differences between the method that we applied and the one preferred by Pfeifer. Yet, we advocate for full transparency and justification of choices as long as rigorous comparison of pipelines remains absent because it is the only way to conclude on best practices for the field.
KW - computational pipeline
KW - germline mutation rate
KW - NGS sequencing
U2 - 10.1093/gigascience/giab072
DO - 10.1093/gigascience/giab072
M3 - Review
C2 - 34673928
AN - SCOPUS:85119329299
VL - 10
JO - GigaScience
JF - GigaScience
SN - 2047-217X
IS - 10
M1 - giab072
ER -
ID: 286995016